Genetic, cell biological, and clinical interrogation of theCFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention | Zendy

Steven V. Molinski | Zendy; Tanja Gonska | Zendy; Ling Jun Huan | Zendy; Berivan Baskin | Zendy; Ibrahim Janahi | Zendy; Peter N. Ray | Zendy; Christine E. Bear | Zendy

Open Access

Genetic, cell biological, and clinical interrogation of theCFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

Author(s) -

Steven V. Molinski,

Tanja Gonska,

Ling Jun Huan,

Berivan Baskin,

Ibrahim Janahi,

Peter N. Ray,

Christine E. Bear

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.4

Subject(s) - missense mutation , cystic fibrosis transmembrane conductance regulator , cystic fibrosis , exon , mutation , biology , genetics , microbiology and biotechnology , exon skipping , gene , genomic dna , medicine , alternative splicing

The purpose of this study was to determine the molecular consequences of the variant c.3700 A>G in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a variant that has been predicted to cause a missense mutation in the CFTR protein (p.Ile1234Val).

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